Varaico: Literature-Extracted Genetic Variants

Gene:TTR
Variant:p.V40A
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TTR

NM_000371.4:p.V40A

Associated Papers

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.

Singh A et al.

Journal of Clinical Medicine, 2025

41095902 (PubMed )
Supplement: jcm-14-06821-s001.zip › jcm-3769433-supplementary.pdf

Prevalence estimation of ATTRv in China based on genetic databases.

Yongsheng Z et al.

Frontiers in Genetics, 2023

37124609 (PubMed )
Supplement: DataSheet2.PDF

Thyroxine metabolite-derived 3-iodothyronamine (T1AM) and synthetic analogs as efficient suppressors of transthyretin amyloidosis.

Kim B et al.

Computational and Structural Biotechnology Journal, 2023

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

Lahuerta Pueyo C et al.

European Journal of Human Genetics : Ejhg, 2019

Conformational differences between the wild type and V30M mutant transthyretin modulate its binding to genistein: implications to tetramer stability and ligand-binding.

Trivella DB et al.

Journal of Structural Biology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."